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Details on Person UniProt:O60890 OPHN1
| Class:Id | ReferenceGeneProduct:60938 |
|---|---|
| _chainChangeLog | chain:1-802 added on Sat February 7 2015 |
| _displayName | UniProt:O60890 OPHN1 |
| _timestamp | 2024-11-03 19:42:25 |
| chain | chain:1-802 |
| checksum | A24D150048071608 |
| comment | FUNCTION Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity).SUBUNIT Interacts with HOMER1. Interacts with AMPA receptor complexes. Interacts with SH3GL2 (endophilin-A1) (By similarity). Interacts (via C-terminus) with NR1D1 (By similarity).SUBCELLULAR LOCATION Expressed in brain.DISEASE The disease is caused by variants affecting the gene represented in this entry. |
| description | recommendedName: Oligophrenin-1 |
| geneName | OPHN1 |
| identifier | O60890 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Cell projection Cytoplasm Disease variant Endocytosis GTPase activation Intellectual disability Neurogenesis Proteomics identification Reference proteome Synapse |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | OPHN1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9001318] ENSEMBL:ENSG00000079482 OPHN1 [Homo sapiens] |
| secondaryIdentifier | OPHN1_HUMAN B9EIP8 Q5JQ81 Q6PCC1 Q8WX47 |
| sequenceLength | 802 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8975676] UniProt:O60890-1 OPHN1 [Homo sapiens] [ReferenceIsoform:8975677] UniProt:O60890-2 OPHN1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:195201] OPHN1 [cytosol] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:O60890 OPHN1 (60938)
